Varaico: Literature-Extracted Genetic Variants

BMPER

114 papers

RefSeq Summary

This gene encodes a secreted protein that interacts with, and inhibits bone morphogenetic protein (BMP) function. It has been shown to inhibit BMP2- and BMP4-dependent osteoblast differentiation and B...

Pfam Domains

VWCaa 166–224UCSCvon Willebrand factor type C domain

VWCaa 301–357UCSCvon Willebrand factor type C domain

VWDaa 338–404UCSCvon Willebrand factor type D domain

VWDaa 364–514UCSCvon Willebrand factor type D domain

C8aa 559–625UCSCC8 domain

TILaa 629–682UCSCTrypsin Inhibitor like cysteine rich domain

Gene Aliases

HGNC Name

BMP binding endothelial regulator

HGNC Alias Symbols

Cv2; CRIM3

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

2 papers

NM_001365308.1

p.C166S

c.496T>A

Surrounding Variants

1 paper

NM_001365308.1

p.C166Fs

c.496_498delinsAFs

1 paper

NM_001365308.1

p.C166fs

c.496_497fs

3 papers

NM_001365308.1

p.V167_F168delFs

c.501_502delGT

2 papers

NM_001365308.1

p.C166S

c.497G>C

4 papers

NM_001365308.1

p.Q172*

c.514C>T

1 paper

NM_001365308.1

p.E178K

c.532G>A

1 paper

NM_001365308.1

p.G183E

c.548G>A

1 paper

NM_001365308.1

p.P164A

c.490C>G

1 paper

NM_001365308.1

p.M158I

c.474G>A

1 paper

NM_001365308.1

p.M158I

c.474G>C

1 paper

NM_001365308.1

p.M158I

c.474G>T

2 papers

NM_001365308.1

p.T139R

c.416C>G